Incidental Mutation 'IGL02133:Gtdc1'
ID 281075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gtdc1
Ensembl Gene ENSMUSG00000036890
Gene Name glycosyltransferase-like domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02133
Quality Score
Status
Chromosome 2
Chromosomal Location 44564412-44927657 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44575443 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 305 (M305K)
Ref Sequence ENSEMBL: ENSMUSP00000038119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049051] [ENSMUST00000112810] [ENSMUST00000130991]
AlphaFold Q8BW56
Predicted Effect probably damaging
Transcript: ENSMUST00000049051
AA Change: M305K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038119
Gene: ENSMUSG00000036890
AA Change: M305K

DomainStartEndE-ValueType
Pfam:DUF3524 1 108 1.4e-44 PFAM
Pfam:Glycos_transf_1 208 360 4.9e-13 PFAM
Pfam:Glyco_trans_1_4 210 348 2.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112810
AA Change: M364K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108429
Gene: ENSMUSG00000036890
AA Change: M364K

DomainStartEndE-ValueType
Pfam:DUF3524 2 167 1.3e-74 PFAM
Pfam:Glycos_transf_1 266 444 1.3e-10 PFAM
Pfam:Glyco_trans_1_4 269 407 1.4e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130991
SMART Domains Protein: ENSMUSP00000116839
Gene: ENSMUSG00000036890

DomainStartEndE-ValueType
Pfam:DUF3524 1 87 1.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143333
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik T A 14: 49,232,967 Q165L probably benign Het
9530068E07Rik G T 11: 52,403,510 A193S probably damaging Het
Adam4 A G 12: 81,420,029 V606A probably benign Het
Atp2c2 A G 8: 119,754,335 I821V probably benign Het
Bmi1 A T 2: 18,683,677 R160W probably damaging Het
Ccdc88c G A 12: 100,940,090 R1062C probably damaging Het
Cntnap3 A T 13: 64,751,673 probably benign Het
Col20a1 C T 2: 181,007,144 T940I probably damaging Het
Csmd3 A C 15: 47,857,942 M1535R possibly damaging Het
Dhx38 C A 8: 109,558,241 E487* probably null Het
Fam186b A G 15: 99,273,703 S888P probably damaging Het
Fancm G A 12: 65,106,475 G1235D probably benign Het
Grin3a C T 4: 49,792,946 W262* probably null Het
H2-M9 T C 17: 36,641,737 E139G possibly damaging Het
Haus1 A T 18: 77,766,911 L53Q probably damaging Het
Hgfac A G 5: 35,046,587 Y483C probably damaging Het
Hipk2 C T 6: 38,819,134 V67I probably benign Het
Kbtbd8 T C 6: 95,121,732 probably benign Het
Kndc1 A G 7: 139,920,767 T683A probably benign Het
Ldhb A T 6: 142,492,500 M277K probably benign Het
Mgam T C 6: 40,643,076 L33P probably damaging Het
Ndst1 A G 18: 60,699,546 F571L probably benign Het
Neb G T 2: 52,212,804 probably null Het
Nrxn1 A G 17: 90,643,243 S503P probably damaging Het
Paqr3 A G 5: 97,095,931 V308A probably benign Het
Scnn1g T C 7: 121,743,699 F292L probably damaging Het
Stk3 A G 15: 35,099,516 F88S probably damaging Het
Tcaf2 T A 6: 42,627,396 E683V probably benign Het
Tprkb T C 6: 85,927,911 V123A probably benign Het
Ush2a T C 1: 188,443,343 Y1213H probably damaging Het
Vwa5b1 A G 4: 138,586,557 probably null Het
Wls A G 3: 159,897,370 Y140C probably damaging Het
Zan A G 5: 137,411,498 S28P possibly damaging Het
Other mutations in Gtdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Gtdc1 APN 2 44591879 critical splice donor site probably null
IGL02465:Gtdc1 APN 2 44570423 missense probably damaging 1.00
IGL02488:Gtdc1 APN 2 44825439 missense probably benign 0.38
IGL02835:Gtdc1 UTSW 2 44756312 nonsense probably null
K3955:Gtdc1 UTSW 2 44752221 critical splice acceptor site probably null
R0121:Gtdc1 UTSW 2 44565538 splice site probably benign
R0270:Gtdc1 UTSW 2 44752174 missense possibly damaging 0.94
R0490:Gtdc1 UTSW 2 44635040 missense probably benign 0.03
R1506:Gtdc1 UTSW 2 44575494 missense possibly damaging 0.65
R1889:Gtdc1 UTSW 2 44591914 missense probably damaging 1.00
R1944:Gtdc1 UTSW 2 44752186 missense possibly damaging 0.95
R3724:Gtdc1 UTSW 2 44756307 missense probably damaging 0.96
R4134:Gtdc1 UTSW 2 44825418 missense probably damaging 1.00
R4416:Gtdc1 UTSW 2 44575590 splice site probably null
R4666:Gtdc1 UTSW 2 44591925 missense probably benign 0.05
R4732:Gtdc1 UTSW 2 44789055 intron probably benign
R4947:Gtdc1 UTSW 2 44591956 missense probably null 0.01
R5474:Gtdc1 UTSW 2 44756367 missense probably damaging 1.00
R5911:Gtdc1 UTSW 2 44752064 missense probably benign 0.41
R6370:Gtdc1 UTSW 2 44756322 missense probably damaging 0.99
R6809:Gtdc1 UTSW 2 44575551 nonsense probably null
R6809:Gtdc1 UTSW 2 44825384 missense probably damaging 1.00
R7270:Gtdc1 UTSW 2 44635310 missense probably benign 0.01
R7581:Gtdc1 UTSW 2 44790005 splice site probably null
R8547:Gtdc1 UTSW 2 44788981 intron probably benign
R8951:Gtdc1 UTSW 2 44789018 intron probably benign
R8997:Gtdc1 UTSW 2 44825374 missense probably benign 0.02
R9796:Gtdc1 UTSW 2 44825374 missense probably benign 0.02
X0063:Gtdc1 UTSW 2 44570447 missense probably damaging 1.00
Posted On 2015-04-16